Hom V glycogen cia kab mob
Hom V (tsib) glycogen cia kab mob (GSD V) yog ib qho mob uas muaj tsawg heev uas lub cev tsis tuaj yeem ua txhaum glycogen. Glycogen yog qhov tseem ceeb ntawm lub zog uas tau khaws cia hauv txhua cov ntaub so ntswg, tshwj xeeb hauv cov leeg nqaij thiab lub siab.
GSD V tseem hu ua tus kabmob McArdle.
GSD V tshwm sim los ntawm qhov khuam nyob rau hauv lub gene uas ua rau lub enzyme hu ua nqaij glycogen phosphorylase. Vim li ntawd, lub cev tsis tuaj yeem ua txhaum glycogen hauv cov leeg.
GSD V yog ib qho autosomal recessive caj ces tsis meej. Qhov no txhais tau tias koj yuav tsum tau txais daim ntawv theej tsis cia ntawm ob tus niam txiv. Ib tus neeg uas tau txais qhov tsis muaj caj ces los ntawm ib tug niam txiv feem ntau tsis muaj tus mob no. Tsev neeg keeb kwm ntawm GSD V nce qhov kev pheej hmoo.
Cov tsos mob feem ntau pib tshwm sim thaum menyuam yaus. Tab sis, nws yuav nyuaj rau cais cov tsos mob no los ntawm cov menyuam yaus ib txwm muaj. Kev kuaj mob yuav tsis tshwm sim kom txog rau thaum ib tus neeg muaj hnub nyoog tshaj 20 lossis 30 xyoo.
- Cov ntshav ua kua Burgundy-xim (myoglobinuria)
- Nkees
- Kev tawm dag zog tsis zoo, lub siab tawv
- Mob leeg
- Mob leeg
- Nqaij ua txhav
- Nqaij tsis muaj zog
Cov kev xeem hauv qab no tuaj yeem ua:
- Electromyography (EMG)
- Kev tshuaj ntsuam caj ces
- Lactic acid hauv cov ntshav
- MRI
- Nqaij xyoob
- Myoglobin hauv cov zis
- Ntshav ammonia
- Ntshav dej creatine kinase
Tsis muaj kev kho tshwj xeeb.
Tus kws kho mob tej zaum yuav qhia cov hauv qab no kom nquag plias thiab noj qab haus huv thiab tiv thaiv cov tsos mob:
- Yuav tsum paub txog koj qhov kev txwv lub cev.
- Ua ntej qoj ib ce, sov maj mam sov.
- Zam txhob tawm hwv lossis nyhav dhau.
- Noj cov protein kom txaus.
Nug koj tus kws kho mob yog tias nws yog ib lub tswv yim zoo uas koj noj cov piam thaj ua ntej kev tawm dag zog. Qhov no yuav pab tiv thaiv cov leeg mob.
Yog tias koj yuav tsum muaj kev phais, nug koj tus kws kho mob yog tias nws tsis ua li cas rau koj kom muaj kev tshuaj loog.
Cov pab pawg hauv qab no tuaj yeem muab cov ntaub ntawv thiab cov peev txheej ntxiv:
- Koom Haum Rau Glycogen Cia Cov Kab Mob - www.agsdus.org
- Lub Koom Haum Tebchaws rau Cov Kab Mob Tsis Txaus - rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5
Cov neeg uas muaj GSD V tuaj yeem ua lub neej zoo los ntawm kev tswj hwm lawv kev noj haus thiab kev siv lub cev.
Kev tawm dag zog tuaj yeem tsim cov leeg mob, lossis txawm ua rau tawg ntawm cov leeg pob txha (rhabdomyolysis). Tus mob no tau cuam tshuam nrog cov zis ua kua burgundy-daj thiab muaj qhov pheej hmoo rau lub raum tsis ua haujlwm yog tias mob hnyav.
Hu rau koj tus kws kho mob yog tias koj pheej rov mob dua los yog mob cov nqaij ntshiv tom qab qoj ib ce, tshwj xeeb yog tias koj tseem muaj cov zis ua paug burgundy lossis paj yeeb.
Xav txog kev ntuas caj ces yog tias koj muaj keeb kwm kev ua neej ntawm GSD V.
Myophosphorylase deficiency; Nqaij glycogen phosphorylase tsis muaj zog; PYGM tsis muaj peev xwm
Akman HO, Oldfors A, DiMauro S. Glycogen cia kab mob ntawm cov leeg mob. Hauv: Darras BT, Jones HR, Ryan MM, De Vivo DC, eds. Neuromuscular Muaj Teeb Meem Ntawm Menyuam Mos, Menyuam Mos, thiab Cov HluasCov. 2nd ed. Waltham, MA: Elsevier Txuj Ci Tseem Ceeb; Xyoo 2015: chap 39.
Brandow AM. Enzymatic tsis xws luag. Hauv: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Phau Ntawv ntawm PediatricsCov. 21st ed. Philadelphia, PA: Elsevier; 2020: cha 490.
Weinstein DA. Glycogen cia kab mob. Hauv: Goldman L, Schafer AI, eds. Goldman-Cecil TshuajCov. 26th ed. Philadelphia, PA: Elsevier; 2020: chap 196.